Ann Pediatr Endocrinol Metab.  2018 Sep;23(3):154-157. 10.6065/apem.2018.23.3.154.

Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11

• Yoon JS
• Park KJ
• Sohn YB
• Lee HS
• Hwang JS

• KMID: 2422480
• DOI: http://doi.org/10.6065/apem.2018.23.3.154

Abstract

Permanent neonatal diabetes mellitus is most commonly caused by mutations in the ATP-sensitive potassium channel (KATP) subunits. Prompt initiation of sulfonylurea treatment can improve glycemic control in children with KCNJ11 mutation. In this report, we present a case of permanent neonatal diabetes caused by a mutation in the KCNJ11 gene that was successfully treated via early switching of insulin to sulfonylurea treatment. A 53-day-old female infant presented with diabetic ketoacidosis. Insulin was administered for the ketoacidosis and blood glucose regulation. At 3 months of age, using genomic DNA extracted from peripheral lymphocytes, direct sequencing of KCNJ11 identified a heterozygous mutation of c.158G>A (p.G53D) and confirmed the diagnosis of permanent neonatal diabetes mellitus. Subsequently, treatment with sulfonylurea was initiated, and the insulin dose was gradually tapered. At 4 months of age, insulin therapy was discontinued, and sulfonylurea (glimepiride, 0.75 mg/kg) was administered alone. At 6 months after initiation of administration of sulfonylurea monotherapy, blood glucose control was stable, and no hypoglycemic events or developmental delays were reported. C-peptide levels increased during treatment with sulfonylurea. Early switching to sulfonylurea in infants with permanent diabetes mellitus owing to a KCNJ11 mutation could successfully help regulate glycemic control, which suggests the need for early genetic testing in patients presenting with diabetes before 6 months of age.

Keyword

Neonate; Diabetes mellitus; Mutation; KCNJ11 mutation; Sulfonylurea

MeSH Terms

Blood Glucose
C-Peptide
Child
Diabetes Mellitus
Diabetic Ketoacidosis
Diagnosis
DNA
Female
Genetic Testing
Humans
Infant*
Infant, Newborn
Insulin*
Ketosis
Lymphocytes
Potassium Channels
Blood Glucose
C-Peptide
DNA
Insulin
Potassium Channels

Figure

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  Fig. 1. Direct sequencing of the KCNJ11 gene revealed a heterozygous mutation of c.158G>A (p.G53D).

Reference

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